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ABCA13 (ATP binding cassette subfamily A member 13)

Identity

Alias (NCBI)-
HGNC (Hugo) ABCA13
HGNC Alias symbFLJ33876
FLJ33951
HGNC Previous nameATP-binding cassette, sub-family A (ABC1), member 13
LocusID (NCBI) 154664
Atlas_Id 55613
Location 7p12.3  [Link to chromosome band 7p12]
Location_base_pair Starts at 48171458 and ends at 48647497 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABCA13 (7p12.3) / ABCA13 (7p12.3)ABCA13 (7p12.3) / VEPH1 (3q25.31)ALOX5 (10q11.21) / ABCA13 (7p12.3)
C2CD3 (11q13.4) / ABCA13 (7p12.3)IKZF1 (7p12.2) / ABCA13 (7p12.3)KIAA1324L (7q21.12) / ABCA13 (7p12.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;7)(p12;p12) IKZF1/ABCA13


External links

 

Nomenclature
HGNC (Hugo)ABCA13   14638
Cards
Entrez_Gene (NCBI)ABCA13    ATP binding cassette subfamily A member 13
Aliases
GeneCards (Weizmann)ABCA13
Ensembl hg19 (Hinxton)ENSG00000179869 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179869 [Gene_View]  ENSG00000179869 [Sequence]  chr7:48171458-48647497 [Contig_View]  ABCA13 [Vega]
ICGC DataPortalENSG00000179869
TCGA cBioPortalABCA13
AceView (NCBI)ABCA13
Genatlas (Paris)ABCA13
SOURCE (Princeton)ABCA13
Genetics Home Reference (NIH)ABCA13
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA13  -     chr7:48171458-48647497 +  7p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA13  -     7p12.3   [Description]    (hg19-Feb_2009)
GoldenPathABCA13 - 7p12.3 [CytoView hg19]  ABCA13 - 7p12.3 [CytoView hg38]
ImmunoBaseENSG00000179869
Genome Data Viewer NCBIABCA13 [Mapview hg19]  
OMIM607807   
Gene and transcription
Genbank (Entrez)AF501281 AK091195 AK091270 AK126220 AK128516
RefSeq transcript (Entrez)NM_152701
Consensus coding sequences : CCDS (NCBI)ABCA13
Gene ExpressionABCA13 [ NCBI-GEO ]   ABCA13 [ EBI - ARRAY_EXPRESS ]   ABCA13 [ SEEK ]   ABCA13 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA13 [ Firebrowse - Broad ]
GenevisibleExpression of ABCA13 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)154664
GTEX Portal (Tissue expression)ABCA13
Human Protein AtlasENSG00000179869-ABCA13 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86UQ4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86UQ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86UQ4
PhosPhoSitePlusQ86UQ4
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_transporter-like    ABCA    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA13
SuperfamilyQ86UQ4
AlphaFold pdb e-kbQ86UQ4   
Human Protein Atlas [tissue]ENSG00000179869-ABCA13 [tissue]
HPRD07422
Protein Interaction databases
DIP (DOE-UCLA)Q86UQ4
IntAct (EBI)Q86UQ4
BioGRIDABCA13
STRING (EMBL)ABCA13
ZODIACABCA13
Ontologies - Pathways
QuickGOQ86UQ4
Ontology : AmiGOlipid transporter activity  ATP binding  plasma membrane  lipid transport  integral component of membrane  secretory granule membrane  positive regulation of cholesterol transport  azurophil granule membrane  ceramide transport  ATPase-coupled transmembrane transporter activity  intracellular membrane-bounded organelle  neutrophil degranulation  transmembrane transport  intracellular vesicle  positive regulation of synaptic vesicle endocytosis  
Ontology : EGO-EBIlipid transporter activity  ATP binding  plasma membrane  lipid transport  integral component of membrane  secretory granule membrane  positive regulation of cholesterol transport  azurophil granule membrane  ceramide transport  ATPase-coupled transmembrane transporter activity  intracellular membrane-bounded organelle  neutrophil degranulation  transmembrane transport  intracellular vesicle  positive regulation of synaptic vesicle endocytosis  
Pathways : KEGGABC transporters   
NDEx NetworkABCA13
Atlas of Cancer Signalling NetworkABCA13
Wikipedia pathwaysABCA13
Orthology - Evolution
OrthoDB154664
GeneTree (enSembl)ENSG00000179869
Phylogenetic Trees/Animal Genes : TreeFamABCA13
Homologs : HomoloGeneABCA13
Homology/Alignments : Family Browser (UCSC)ABCA13
Gene fusions - Rearrangements
Fusion : QuiverABCA13
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA13
dbVarABCA13
ClinVarABCA13
MonarchABCA13
1000_GenomesABCA13 
Exome Variant ServerABCA13
GNOMAD BrowserENSG00000179869
Varsome BrowserABCA13
ACMGABCA13 variants
VarityQ86UQ4
Genomic Variants (DGV)ABCA13 [DGVbeta]
DECIPHERABCA13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA13 
Mutations
ICGC Data PortalABCA13 
TCGA Data PortalABCA13 
Broad Tumor PortalABCA13
OASIS PortalABCA13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA13  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DABCA13
Mutations and Diseases : HGMDABCA13
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaABCA13
DgiDB (Drug Gene Interaction Database)ABCA13
DoCM (Curated mutations)ABCA13
CIViC (Clinical Interpretations of Variants in Cancer)ABCA13
Cancer3DABCA13
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607807   
Orphanet
DisGeNETABCA13
MedgenABCA13
Genetic Testing Registry ABCA13
NextProtQ86UQ4 [Medical]
GENETestsABCA13
Target ValidationABCA13
Huge Navigator ABCA13 [HugePedia]
ClinGenABCA13
Clinical trials, drugs, therapy
MyCancerGenomeABCA13
Protein Interactions : CTDABCA13
Pharm GKB GenePA134925234
PharosQ86UQ4
Clinical trialABCA13
Miscellaneous
canSAR (ICR)ABCA13
HarmonizomeABCA13
DataMed IndexABCA13
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABCA13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 14:57:58 CEST 2021

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